AB0166 IGAV AND IGAN: A SINGLE ENTITY REGARDING CD40, BLK AND BANK1 POLYMORPHISMS
Authors: V. Pulito-Cueto, F. Genre Romero, S. Remuzgo Martinez, B. Sevilla, N. Ortego, M. Leonardo, A. Peñalba, J. Narváez, L. Martín-Penagos, L. Belmar-Vega, C. Gomez-Fernandez, M. Sebastián Mora-Gil, L. Caminal Montero, P. Collado, A. Fernandez-Nebro, G. Diaz-Cordobes, S. Cigarrán, J. Calviño, C. Cobelo, D. De Argila, J. Sanchez Perez, M. Uriarte-Ecenarro, E. Rubio-Romero, M. Leon Luque, J. M. Blanco-Madrigal, E. Galíndez-Agirregoikoa, J. Martin Ibanez, S. Castañeda, M. A. González-Gay, R. Blanco, R. López-Mejías
Journal: Annals of the Rheumatic Diseases (2023)

<h3>Background</h3> IgA vasculitis (IgAV) and IgA nephropathy (IgAN) are inflammatory conditions that share pathophysiological mechanisms, being B-cells crucial players in both diseases [1]. In this regard, some authors have suggested that IgAV and IgAN may represent different outcomes of a continuous spectrum of a disease [2]. In addition, <i>CD40, BLK</i> and <i>BANK1</i> are relevant genes involved in the development and signalling of B-cells and are also identified as susceptibility <i>loci</i> for several immune-mediated diseases [3-6]. <h3>Objectives</h3> To determine whether IgAV and IgAN may be different outcomes of a single disease, by assessing the <i>CD40, BLK</i> and <i>BANK1</i> genetic pattern. <h3>Methods</h3> Three genetic variants within <i>CD40</i> (rs1883832, rs1535045, rs4813003), three genetic polymorphisms within <i>BLK</i> (rs2254546, rs2736340, rs2618476) as well as two <i>BANK1</i> genetic variants (rs10516487, rs3733197) were genotyped in 380 Caucasian patients diagnosed with IgAV, 90 patients diagnosed with IgAN and 1,012 ethnically matched healthy controls. The eight polymorphisms selected were previously associated with several inflammatory diseases [3-6]. <h3>Results</h3> Similar genotype and allele frequencies were observed in IgAV patients when compared to those with IgAN, when <i>CD40, BLK</i> and <i>BANK1</i> variants were analyzed independently (<b>Table 1</b>). In addition, no statistically significant differences were observed between patients with IgAV and healthy controls as well as between patients with IgAN and healthy controls, when <i>CD40, BLK</i> and <i>BANK1</i> genetic variants were analyzed independently (<b>Table 1</b>). Similar results were disclosed when haplotype frequencies of <i>CD40, BLK</i> and <i>BANK1</i> were compared between patients with IgAV and those with IgAN, as well as between patients with IgAV and healthy controls and between IgAN and healthy controls. <h3>Conclusion</h3> Our results reveal a similar <i>CD40, BLK</i> and <i>BANK1</i> genetic distribution in IgAV and IgAN, supporting that IgAV and IgAN may represent different outcomes of a single disease. <h3>References</h3> [1] N Engl J Med 2013;368:2402-14; [2] Am J Kidney Dis 1988;12:373-7; [3] Nat Genet 2009;41:824-8; [4] Ann Rheum Dis 2012;71:136-42; [5] Nat Genet 2012;44:517-21; [6] Nat Genet 2012;44:522-5. <h3>Acknowledgements</h3> This study has been funded by Instituto de Salud Carlos III (ISCIII) through the project PI18/00042 and PI21/00042, co-funded by European Regional Development Fund (ERDF), `Investing in your future´; VP-C: PI18/00042 from ISCIII, co-funded by ERDF; MSM-G is supported by funds of TRANSVAL22/01 from IDIVAL; RL-M: Miguel Servet type II programme fellowship from the ISCIII, co-funded by the European Social Fund (`Investing in your future´) [CPII21/00004]. <h3>Disclosure of Interests</h3> Verónica Pulito-Cueto: None declared, Fernanda Genre Romero: None declared, Sara Remuzgo Martinez: None declared, Belén Sevilla: None declared, Norberto Ortego: None declared, Maite Leonardo: None declared, Ana Peñalba: None declared, J. Narváez: None declared, Luis Martín-Penagos: None declared, Lara Belmar-Vega: None declared, Cristina Gomez-Fernandez: None declared, María Sebastián Mora-Gil: None declared, LUIS CAMINAL MONTERO: None declared, PAZ COLLADO: None declared, Antonio Fernandez-Nebro: None declared, Gisela Diaz-Cordobes: None declared, Secundino Cigarrán: None declared, Jesús Calviño: None declared, Carmen Cobelo: None declared, Diego de Argila: None declared, Javier Sanchez Perez: None declared, Miren Uriarte-Ecenarro: None declared, Esteban Rubio-Romero: None declared, MANUEL LEON LUQUE: None declared, Juan María Blanco-Madrigal: None declared, E. Galíndez-Agirregoikoa: None declared, Javier Martin Ibanez: None declared, Santos Castañeda: None declared, Miguel A González-Gay Speakers bureau: Abbvie, Pfizer, Roche, Sanofi, Lilly, Celgene, MSD and GSK, Grant/research support from: Abbvie, MSD, Jansen and Roche, Ricardo Blanco Speakers bureau: Abbvie, Pfizer, Roche, Bristol-Myers, Janssen and MSD, Consultant of: Abbvie, Pfizer, Roche, Bristol-Myers, Janssen and MSD, Grant/research support from: Abbvie, MSD and Roche, Raquel López-Mejías: None declared.